NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

Por Sarrabay, G, Tachon, G, Mechin, D, Touitou, I
Publicado no Pediatr Rheumatol Online J (2015)

First report of MEFV duplication in FMF patient

Por Sarrabay, G, Méchin, D, Dumont, B, André, M, Touitou, I
Publicado no Pediatr Rheumatol Online J (2015)

Identification of three ADA2 deficiency families with novel CECR1 mutations

Por Sarrabay, G, Insalaco, A, Uettwiller, F, Tieulié, N, Quartier-dit-maire, P, Melki, J, Touitou, I
Publicado no Pediatr Rheumatol Online J (2015)

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Por Uettwiller, F, Sarrabay, G, Rodero, M P, Rice, G I, Lagrue, E, Marot, Y, Deiva, K, Touitou, I, Crow, Y J, Quartier, P
Publicado no RMD Open (2016)